Neuropediatrics 2017; 48(04): 262-272
DOI: 10.1055/s-0037-1601860
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Dystrophinopathies and Limb-Girdle Muscular Dystrophies

Joana Domingos
1  UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom
,
Anna Sarkozy
1  UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom
,
Mariacristina Scoto
1  UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom
,
Francesco Muntoni
1  UCL Great Ormond Street Institute of Child Health, Department of Molecular Neurosciences, Dubowitz Neuromuscular Centre and Great Ormond Street Hospital, London, United Kingdom
› Author Affiliations
Further Information

Publication History

21 February 2017

08 March 2017

Publication Date:
20 April 2017 (eFirst)

Abstract

Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's and Becker's muscular dystrophies, but in reality they are a spectrum of muscle diseases caused by mutations in the gene that encodes the protein dystrophin. Duchenne's muscular dystrophy is the most common form of inherited muscle disease of childhood. The current standards of care considerably prolong independent ambulation and survival. Several therapeutic options either aiming at substituting/correcting the primary protein defect or limiting the progression of the dystrophic process are currently being explored in clinical trials.

Limb-girdle muscular dystrophies (LGMDs) are rare and heterogeneous conditions, characterized by weakness and wasting of the pelvic and shoulder girdle muscles. Originally classified into dominant and recessive, > 30 genetic forms of LGMDs are currently recognized. Further understanding of the pathogenic mechanisms of LGMD will help identifying novel therapeutic approaches that can be tested in clinical trials.